Canonical Allele Identifier: CA2833012

Gene: MSX1

Linked Data

• ClinVar Variation Id: 1283263
• ClinVar RCV Id: RCV001689522
• dbSNP Id: rs10213148
• ExAC: 4:4864276 A / G
• gnomAD v2: 4-4864276-A-G
• gnomAD v3: 4-4862549-A-G
• gnomAD v4: 4-4862549-A-G
• MyVariant Identifiers: chr4:g.4864276A>G (hg19) ; chr4:g.4862549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4862549A>G , CM000666.2:g.4862549A>G	GRCh38
NC_000004.11:g.4864276A>G , CM000666.1:g.4864276A>G	GRCh37
NC_000004.10:g.4915177A>G	NCBI36
NG_008121.1:g.7885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-152A>G MANE Select	ENSP00000372170.4:n.470-152A>G
ENST00000382723.4:c.470-152A>G	ENSP00000372170.4:n.470-152A>G
ENST00000468421.1:n.122A>G
NM_002448.3:c.470-152A>G MANE Select	NP_002439.2:n.470-152A>G